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C R Scriver

Showing results (231-240 of 317) with videos related to

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Science (New York, N.Y.)|May 26, 1978
Genetics and Medicine: an evolving relationshipC R Scriver, C Laberge, C L Clow, et al.
Human Mutation|January 1, 1997
Probable identity by descent and discovery of familial relationships by means of a rare beta-thalassemia haplotypeT Martino, F Kaplan, S Diamond, et al.
Progress in Clinical and Biological Research|January 1, 1982
Workshop on amino acid metabolismJ D Schulman, S Kaufman, J A Schneider, et al.
Human Molecular Genetics|September 1, 1994
Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populationsS Byck, K Morgan, L Tyfield, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|August 15, 1983
Apparent gastrointestinal origin of cis-4-hydroxycyclohexanecarboxylic acidJ B Kronick, O A Mamer, J Montgomery, et al.
Human Mutation|February 5, 1998
In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to functionP J Waters, M A Parniak, P Nowacki, et al.
Canadian Medical Association Journal|March 24, 2010
A Commentary on Multiple Screening for Aminoacidopathies in the Newborn InfantC R Scriver, C Clow, E Davies, et al.
Pediatrics|June 1, 1971
Adolescent cystinosis: comparisons with infantile and adult formsH Goldman, C R Scriver, K Aaron, et al.
Human Mutation|January 1, 1992
Five mutations at the PAH locus account for almost 90% of PKU mutations in French-Canadians from eastern QuebecS W John, R Rozen, R Laframboise, et al.
Archives of Disease in Childhood|March 1, 1981
Autosomal hypophosphataemic bone disease responds to 1,25-(OH)2D3C R Scriver, T Reade, F Halal, et al.
Pageof 32

Showing results (231-240 of 317) with videos related to

Sort By:
Pageof 32
Science (New York, N.Y.)|May 26, 1978
Genetics and Medicine: an evolving relationshipC R Scriver, C Laberge, C L Clow, et al.
Human Mutation|January 1, 1997
Probable identity by descent and discovery of familial relationships by means of a rare beta-thalassemia haplotypeT Martino, F Kaplan, S Diamond, et al.
Progress in Clinical and Biological Research|January 1, 1982
Workshop on amino acid metabolismJ D Schulman, S Kaufman, J A Schneider, et al.
Human Molecular Genetics|September 1, 1994
Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populationsS Byck, K Morgan, L Tyfield, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|August 15, 1983
Apparent gastrointestinal origin of cis-4-hydroxycyclohexanecarboxylic acidJ B Kronick, O A Mamer, J Montgomery, et al.
Human Mutation|February 5, 1998
In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to functionP J Waters, M A Parniak, P Nowacki, et al.
Canadian Medical Association Journal|March 24, 2010
A Commentary on Multiple Screening for Aminoacidopathies in the Newborn InfantC R Scriver, C Clow, E Davies, et al.
Pediatrics|June 1, 1971
Adolescent cystinosis: comparisons with infantile and adult formsH Goldman, C R Scriver, K Aaron, et al.
Human Mutation|January 1, 1992
Five mutations at the PAH locus account for almost 90% of PKU mutations in French-Canadians from eastern QuebecS W John, R Rozen, R Laframboise, et al.
Archives of Disease in Childhood|March 1, 1981
Autosomal hypophosphataemic bone disease responds to 1,25-(OH)2D3C R Scriver, T Reade, F Halal, et al.
Pageof 32